A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954512



Internal ID19203952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3477963..3478021hg38UCSC Ensembl
Outerchr17:3381257..3381315hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116180
Supporting Variants
SamplesKWS1
Known GenesASPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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